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Center for Jewish Genetics blog

I remember when I first learned about the BRCA gene in one
of my college genetics classes. We discussed that a mutation in the BRCA gene
drastically increases a person’s risk for breast and ovarian cancer, and that
there was a simple blood test that could help someone learn if they were born
with such a mutation. At the time, a single laboratory held a patent on the
BRCA gene and the corresponding genetic test. The price of a BRCA test was well
over $2,000, which I found shocking. Here was a test that could help save lives,
yet the price was prohibitive for so many people who could benefit from it.

In a
landmark 2013 case, the Supreme Court ruled unanimously that human genes could not be
patented. This freed up ownership of the BRCA test and was a huge victory for
ensuring patient access to quality healthcare and allowing the medical
community to further scientific advancements around the BRCA gene. The day
after the Supreme Court decision, a number of other commercial laboratories
started to advertise their offerings for BRCA testing. With more than one
player in the market, the cost of testing quickly went down.

This
June marks the five-year anniversary of this landmark legal ruling. In the last
five years, there have been rapid developments in our knowledge of cancer
genetics and the breadth of testing options. The rise of direct-to-consumer
(DTC) genetic tests has also made genetic testing more widely available than
ever, including some tests that provide information about inherited cancer risk.
However, DTC tests pose a new set of challenges when it comes to accessing
genetic tests.

As a genetic counselor, I have always
been an advocate for patient access to important genetic technologies. But I
also caution people to remember that not all genetic tests are the same. Direct-to-consumer
tests that you can order without a healthcare provider do not meet the same
technical standards as clinical testing, and ultimately provide a much more
limited picture of your health risk. In the era of Amazon Prime, it may seem
like the most efficient option to order a BRCA test for yourself online. But I
think I speak for many an online shopper when I say that putting something in
your cart just because it is convenient at the time often ends in regret.
Genetic testing is no different. Ordering a BRCA test online may seem
convenient, but genetic tests can be quite complex, and you may be left with unanswered
questions after you receive results. Learning information about your risk for
cancer is empowering, but it can also be scary without the proper guidance and
support.

Like with any important purchase, I recommend
you do your research before you commit to taking any action, and the Sarnoff
Center offers a wealth of resources to help. You can start by reviewing a
statement from the Sarnoff Center Board of Directors that outlines four key points for
community members to understand when considering direct-to-consumer testing.
Another good first step is to meet with a healthcare provider who specializes
in cancer risk assessment to discuss your options. Genetic counselors and other
clinicians can help provide access to the most comprehensive testing that is
tailored towards your personal and family health history, and can guide you
with what to do about genetic testing results. In my opinion, access to genetic
testing is something everyone has a right to, but access to quality genetic
counseling about test results is equally important.

This summer I am thrilled to be
joining the team at the Norton & Elaine Sarnoff Center for Jewish Genetics as part of the Lewis
Summer Interns Program. Currently, I am an undergraduate at the University of
Michigan, seeking my Bachelor’s of Business Administration at the Ross School
of Business, and I am also completing the pre-med requisites necessary for
medical school. On campus, I am a research assistant in an ongoing study called
Growing Toddlers, I am an active member of the Chi Omega sorority, a member of
Hillel’s freshmen outreach board, an avid pro-Israel advocate, a huge Wolverine
football fan, among other things. In my free time, I love to walk, hike, hang out on the beach, or pretty much do anything
outdoors. I look forward to working at the Sarnoff Center, writing blog posts,
assisting on other projects, and helping further the organization’s mission!

Carrier and newborn screenings both offer families information about the risk of a child having an early-onset, potentially life-limiting disease. However, carrier screening provides information much earlier in the family planning process. Ideally done prior to conception, carrier
screening helps couples understand their risk of having a child with a serious genetic condition as well as available options. Newborn screening is for the baby – rather than the parents – and performed after birth. Read on to better understand the differences between carrier and newborn screenings and what
Jewish and interfaith couples should know.

What is carrier
screening?

Carrier screening is an essential step in planning for a healthy family. While everyone carries 6-8 changes in their genes, some genetic changes are more common among people of the same ethnic background. There are more than 19 recessive conditions that are more common among Ashkenazi Jews.
Carriers are healthy individuals but if two people are carriers for the same condition, their future children may be at risk.

Ideally, couples should get carrier screening prior to pregnancy to understand their risks and all options. Carrier screening can also be done during early stages of pregnancy. Understanding the risk of having an affected child before birth gives couples more time to prepare.

Newborn screening is a public health program that can identify babies who have certain early-onset, potentially serious diseases. After a baby is born, and before the baby is discharged from the hospital, a blood sample is obtained through a heel prick. This blood sample is then analyzed to
determine if a newborn is at high risk for certain genetic, metabolic, or congenital conditions. Babies with positive newborn screening results require additional diagnostic testing to determine if they are truly affected with a disease. Newborn screening also includes a hearing test and a pulse oximetry
test to assess the risk for critical heart defects.

By identifying babies who have a serious illness, newborn screening allows for prompt follow up and early diagnosis. In many cases, early interventions and preventive measures can reduce symptoms, or even stop them before they begin. Ensuring that newborns with potentially life-threatening
conditions get the treatment they need early on in life can have a major impact on improving long term health outcomes.

All babies born in the United States receive newborn screening. The programs are mandated by state law, and the conditions screened for vary slightly from state to state.

Do carrier screening and newborn screening test for the
same conditions?

There is some overlap between diseases found on carrier screening panels and diseases that are part of newborn screening. Both include many recessive genetic conditions and metabolic disorders; however, there are some key differences. Some of the conditions on newborn screening, such as congenital heart disease, do not have
a universal genetic cause and are not part of routine carrier screening. On the other hand, large expanded carrier screening panels may include a significantly higher number of conditions than newborn screening panels.

Both newborn screening and carrier screening provide information about risk for genetic disorders, but do not provide an actual diagnosis. Newborn screening may detect that an infant has a disorder. Individuals with positive newborn screen results will be referred to a specialist for counseling and diagnostic testing to
determine if the condition is truly present. Couples who have had negative carrier screening may already know they are at low risk for having a child with some of the newborn screening diseases before their baby is tested

What diseases are included as part of newborn screening?

Every state has a newborn screening program, although the conditions they screen for vary by state. Diseases included on newborn screening panels are early-onset and life-limiting, and some are potentially fatal. For diseases that are treatable, starting treatments early can impact
the course of the disease. Newborn screening typically includes conditions from the following groups of disorders:

Amino acid disorders

Fatty acid oxidation disorders

Organic acid disorders

Lysosomal storage disorders

Other metabolic disorders, such as galactosemia and biotinidase deficiency

Newborn screening panels do not screen for all genetic diseases. Sometimes, healthcare providers recommend additional testing based on family history or other risk factors. It is important to make your doctor aware of any diseases you are concerned about your child inheriting in order to
determine if they should be tested after birth.

What else do Jewish and interfaith couples need to know
about these screenings?

Diseases on newborn screening are not selected for individuals based on ethnic risk. Conditions on newborn screening affect infants of any background, and are not specific to one ethnicity. Some, but not all, Jewish genetic disorders are included on newborn screening and conditions vary depending on what state your
child is born in.

Carrier screening can provide more information about a couple’s risk of having a child with a Jewish genetic disorder. Many screening programs for Jewish and interfaith couples, including the one offered by the Norton & Elaine Sarnoff Center for Jewish Genetics, screen for conditions that are more commonly found among
Jews as well as pan-ethnic conditions that are found equally across people of all backgrounds. For more information about carrier screening, visit
jewishgenetics.org/cjg/Carrier-Screening.aspxor contact the Sarnoff Center.

I have a confession to make: When my wife was pregnant with our first child, I didn’t get carrier screening. In fact, my wife only received a minimal amount of carrier screening, and not until she was already pregnant.

In my defense, we were already expecting when I took on the role of Director of the Sarnoff Center in January 2015. My background wasn’t genetics, but public health. And I was just beginning to understand this new-to-me subject area, and how it might apply to my own life. As I learned
more, I worried – just a little – and then when our son was born in July (a little early, but no less perfect for it), I became a father.

Being a new dad with a new job threw my priorities into sharp relief: Excel at home, excel at work, meet all my responsibilities, and shed any remaining selfish instincts. It wasn’t about me anymore. (Maybe it never was, and I was just too dumb to realize it.)

Of course the second time around, we got full screening through the Sarnoff Center, and last January I became a father for the second time. Our daughter also came early, much earlier than our son, and spent 22 days in the NICU. But she’s home, and healthy, and (usually) happy.

Getting screened was an easy choice, not just because of my job, but because it was so obviously important to the health of our future children. But making other good health choices has not been so easy.

Men are notoriously bad at taking care of themselves. We visit the doctor too infrequently. We ignore health issues until they become unignorable. We try to be selfless by putting the priorities of work and family above those of our own health.

But that selflessness is selfishness in disguise. It’s an excuse for not making that appointment, for not listening to our bodies when they tell us something is wrong, for not showing weakness by asking for help when we need it.

When you’re a father, you want to put your children and your spouse first. Your children and your spouse need you healthy, and they need you alive. Putting them first means taking half a day off work to get that checkup. It means not just hoping that pain will go away, but getting it checked out. It
means knowing your family health history and your health risks so you can put just as much energy into staying healthy as you do into killing it at home and at work.

(And unfortunately for some of us, it may also mean finishing less of the uneaten ice cream left by our children.)

This Father’s Day, commit to your family’s health by investing time in your health. It’s the most selfless selfish thing you can do for the people you love.

What is the most valuable gift you can give to your family? The gift of good health! There are many health conditions that run in families. Knowing your family health history can alert you to the potential risk for a variety of
genetic disorders
. Talk to your relatives for warning signs and
assess your risk
for hereditary cancers.

Did you know: Ashkenazi Jews are 10 TIMES more likely to have BRCA mutations, which significantly increases lifetime risks for hereditary cancers, so what does this heightened risk mean for you?
Click here to learn more
.